"GeneDx"[submitter] AND "DPYS"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 100132	NM_001385.3(DPYS):c.1506del (p.Arg503fs)	DPYS (R503fs)	Deletion (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1356436	NM_001385.3(DPYS):c.1478A>C (p.Tyr493Ser)	DPYS (Y493S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 909729	NM_001385.3(DPYS):c.1469G>A (p.Arg490His)	DPYS (R490H)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 446083	NM_001385.3(DPYS):c.1423C>T (p.Arg475Ter)	DPYS (R475*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 372797	NM_001385.3(DPYS):c.1137C>A (p.Ser379Arg)	DPYS (S379R)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 186	NM_001385.3(DPYS):c.1078T>C (p.Trp360Arg)	DPYS (W360R)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 3368088	NM_001385.3(DPYS):c.872A>G (p.His291Arg)	DPYS (H291R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254902	NM_001385.3(DPYS):c.689C>T (p.Thr230Met)	DPYS (T230M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307483	NM_001385.3(DPYS):c.647G>A (p.Gly216Asp)	DPYS (G216D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 361453	NM_001385.3(DPYS):c.603+5G>A	DPYS	Single nucleotide variant (intron variant)	Dihydropyrimidinase deficiency +1 more	GUncertain significance
Select item 1421032	NM_001385.3(DPYS):c.554T>G (p.Ile185Ser)	DPYS (I185S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 377800	NM_001385.3(DPYS):c.352C>T (p.Arg118Ter)	DPYS (R118*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 1313488	NM_001385.3(DPYS):c.350G>A (p.Trp117Ter)	DPYS (W117*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 100147	NM_001385.3(DPYS):c.264+5C>T	DPYS	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1364435	NM_001385.3(DPYS):c.101del (p.Ala34fs)	DPYS (A34fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 100151	NM_001385.3(DPYS):c.-1T>C	DPYS	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign